Loss of function mutations in STAT3 (STAT3-LOF; autosomal dominant hyper-IgE (Job’s) syndrome) are associated with a variety of musculoskeletal manifestations, including scoliosis, osteoporosis, and minimal trauma fractures. This retrospective magnetic resonance (MR) imaging study sought to characterize an unusual pattern of cervical spine degeneration among a cohort of STAT3-LOF patients. Cervical spine MR images of the STAT3-LOF cohort (n = 38) were assessed for a variety of degenerative changes and compared to age-matched groups of controls (n = 42) without known immune or musculoskeletal abnormalities. A unique pattern of premature cervical spine degeneration was identified among the STAT3-LOF cohort which included straightening and eventual reversal of the normal cervical lordosis, mainly due to multi-level spondylolisthesis, as well as early development of spinal canal narrowing, cord compression, and myelomalacia. Cervical spine degeneration in the STAT3-LOF cohort was significantly worse than controls in both the 30–45 and 45 + age groups. Moderate to severe degenerative changes were present after age 30, and markedly worsened over time in several cases. Bone mineral density (BMD) had a moderate negative correlation with cervical degeneration severity and a strong negative correlation with age among STAT3-LOF participants. Cervical degeneration in STAT3-LOF appears to be progressive and could result in cord compromise if left unaddressed. Focused history and physical examination for signs of neurologic compromise as well as periodic MR imaging are thus recommended for the evaluation of premature cervical spine degeneration in STAT3-LOF patients after age 30 so that timely surgical interventions may be considered to prevent spinal cord damage and permanent neurological deficits.

STAT3功能缺失突变（STAT3-LOF；常染色体显性高 IgE (Job's) 综合征）与多种肌肉骨骼表现相关，包括脊柱侧弯、骨质疏松症和轻微创伤性骨折。这项回顾性磁共振 (MR) 成像研究旨在描述一组 STAT3-LOF 患者中颈椎退变的不寻常模式。对 STAT3-LOF 队列 ( n = 38)的颈椎 MR 图像 进行了各种退行性变化评估，并与年龄匹配的对照组 ( n = 42) 没有已知的免疫或肌肉骨骼异常。在 STAT3-LOF 队列中发现了一种独特的颈椎过早退变模式，包括拉直并最终逆转正常颈椎前凸，这主要是由于多节段脊椎滑脱，以及椎管狭窄、脊髓受压和椎管狭窄的早期发展。骨髓软化症。在 30-45 岁和 45 岁以上年龄组中，STAT3-LOF 队列中的颈椎退变明显比对照组差。30 岁后出现中度至重度退行性变化，并且在一些情况下随着时间的推移显着恶化。在 STAT3-LOF 参与者中，骨矿物质密度 (BMD) 与颈椎退变严重程度呈中度负相关，与年龄呈强负相关。STAT3-LOF 中的宫颈变性似乎是进行性的，如果不加以解决，可能会导致脐带受损。因此，建议对 30 岁后 STAT3-LOF 患者的颈椎过早退变进行集中病史和体格检查以发现神经系统损害的迹象以及定期进行 MR 成像，以便及时进行手术干预以预防脊髓损伤和永久性损伤。神经功能缺损。